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GENE - TERM ANNOTATION REPORT

2 Annotations Found.

An association has been curated linking Smad4 and hereditary hemorrhagic telangiectasia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from Gallione CJ, etal., J Med Genet. 2006 Oct;43(10):793-7. Epub 2006 Apr 13.
  • The annotation has been inferred from sequence orthology with SMAD4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 4 additional annotations were made from Gallione CJ, etal., J Med Genet. 2006 Oct;43(10):793-7. Epub 2006 Apr 13.
  • 15 RGD objects have been annotated to hereditary hemorrhagic telangiectasia  (DOID:1270)
  • 92 papers in RGD have been used to annotate Smad4
  • Curation Notes: DNA:missense,frameshift, nonsense mutations:exons:


  • An association has been curated linking Smad4 and hereditary hemorrhagic telangiectasia in Rattus norvegicus.        

  • The association was inferred from sequence orthology (ISO)
  •  
  • The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
  • The annotation has been inferred from sequence orthology with SMAD4 (Homo sapiens) [(IAGP) inferred by association of genotype and phenotype]
  • 15 RGD objects have been annotated to hereditary hemorrhagic telangiectasia  (DOID:1270)
  • 92 papers in RGD have been used to annotate Smad4
  • Curation Notes: ClinVar Annotator: match by term: Osler hemorrhagic telangiectasia syndrome
  • Original References(s): PMID:25741868 PMID:28492532


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